A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13894417



Internal ID6575974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:91439550..91456041hg38UCSC Ensembl
Innerchr10:91439600..91455991hg38UCSC Ensembl
Outerchr10:91439470..91456121hg38UCSC Ensembl
chr10:93199307..93215798hg19UCSC Ensembl
Innerchr10:93199357..93215748hg19UCSC Ensembl
Outerchr10:93199227..93215878hg19UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg3816492
hg1916492
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624207
Supporting Variants
SamplesNA20762
Known GenesHECTD2, LOC100188947
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13894417
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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